Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1273246817
rs1273246817
RYR2
0.882 0.080 1 237784169 missense variant A/C snv
CUI: C1631597
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.010 1.000 1 2013 2013
dbSNP: rs1273246817
rs1273246817
RYR2
0.882 0.080 1 237784169 missense variant A/C snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 1.000 1 2013 2013
dbSNP: rs1273246817
rs1273246817
RYR2
0.882 0.080 1 237784169 missense variant A/C snv
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.010 1.000 1 2013 2013